A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266932



Internal ID22146318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62331957..62365418hg38UCSC Ensembl
Outerchr20:60907013..60940474hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381624
hg191624
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233914
Supporting Variants
SamplesHG00514
Known GenesLAMA5, MIR4758
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266932
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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